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High-throughput Quantitative Real-time RT-PCR Assay for Determining Expression Profiles of Types I and III Interferon Subtypes

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Trisomy 21 consistently activates the interferon response.

Kelly D Sullivan^1,2,3,4, Hannah C Lewis^1,2, Amanda A Hill^1,2

¹Linda Crnic Institute for Down Syndrome, University of Colorado School of Medicine, Aurora, United States.

|July 30, 2016

Summary

Trisomy 21 activates the interferon pathway in human cells, impacting gene expression and cell proliferation. This interferon activation may contribute to Down syndrome

Keywords:

JAK inhibitors chromosomes down syndrome genes human human biology interferon medicine mouse ruxolitinib trisomy 21

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Area of Science:

Genetics
Immunology
Cell Biology

Background:

Down syndrome is caused by trisomy 21, but the downstream molecular mechanisms are not fully understood.
Identifying key signaling pathways affected by trisomy 21 is crucial for understanding Down syndrome pathogenesis.

Purpose of the Study:

To identify the major signaling pathways activated by trisomy 21 in human cells.
To investigate the functional consequences of trisomy 21-induced pathway activation on cell proliferation.
To explore potential therapeutic targets for Down syndrome.

Main Methods:

Complementary genomics analyses (transcriptome analysis, shRNA screen).
Analysis of fibroblast, lymphoblastoid cell lines, monocytes, and T cells.
Pharmacological inhibition of Janus kinases (JAKs).

Main Results:

Trisomy 21 consistently activates the interferon pathway in various human cell types.
Increased expression of interferon-stimulated genes and decreased expression of ribosomal proteins/translation factors observed.
Interferon-activated kinases JAK1 and TYK2 suppress trisomy 21 fibroblast proliferation, which is reversible with JAK inhibition.

Conclusions:

Interferon pathway activation, potentially due to increased gene dosage of interferon receptors on chromosome 21, contributes to Down syndrome clinical features.
Interferon antagonists represent a potential therapeutic strategy for Down syndrome.